single nucleotide variant | NM_006888.6(CALM1):c.398G>A (p.Gly133Glu) | CALM1 | Likely pathogenic | 14 | 90870835 | 90870835 | G | A | criteria provided, single submitter | ClinGen:CA390690363 |
single nucleotide variant | NM_001743.6(CALM2):c.434T>G (p.Met145Arg) | CALM2 | Likely pathogenic | 2 | 47387931 | 47387931 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_005184.4(CALM3):c.395A>G (p.Asp132Gly) | CALM3 | Likely pathogenic | 19 | 47112212 | 47112212 | A | G | criteria provided, single submitter | ClinGen:CA16608277 |
single nucleotide variant | NM_005184.4(CALM3):c.422A>G (p.Glu141Gly) | CALM3 | Likely pathogenic | 19 | 47112382 | 47112382 | A | G | criteria provided, single submitter | ClinGen:CA406473868 |
single nucleotide variant | NM_033337.3(CAV3):c.137C>T (p.Ala46Val) | CAV3 | Likely pathogenic | 3 | 8787234 | 8787234 | C | T | criteria provided, single submitter | ClinGen:CA119431,Leiden Muscular Dystrophy (CAV3):CAV3_00006,UniProtKB:P56539#VAR_011514,OMIM:601253.0006 |
single nucleotide variant | NM_033337.3(CAV3):c.183C>A (p.Ser61Arg) | CAV3 | Likely pathogenic | 3 | 8787280 | 8787280 | C | A | criteria provided, single submitter | ClinGen:CA215181,Leiden Muscular Dystrophy (CAV3):CAV3_00039,UniProtKB:P56539#VAR_026696 |
single nucleotide variant | NM_033337.3(CAV3):c.251T>C (p.Leu84Pro) | CAV3 | Likely pathogenic | 3 | 8787348 | 8787348 | T | C | criteria provided, single submitter | ClinGen:CA295938 |
single nucleotide variant | NM_033337.3(CAV3):c.303G>C (p.Trp101Cys) | CAV3 | Likely pathogenic | 3 | 8787400 | 8787400 | G | C | criteria provided, single submitter | ClinGen:CA10588372 |
Duplication | NM_033337.3(CAV3):c.366dup (p.Leu123fs) | CAV3 | Likely pathogenic | 3 | 8787462 | 8787463 | C | CA | criteria provided, single submitter | ClinGen:CA658796224 |
Indel | NM_000219.6(KCNE1):c.172_177delinsCCCCCT (p.Thr58_Leu59delinsProPro) | KCNE1 | Likely pathogenic | 21 | 35821756 | 35821761 | CAGGGT | AGGGGG | criteria provided, multiple submitters, no conflicts | ClinGen:CA085426,OMIM:176261.0001 |